{{Rsnum
|rsid=121912889
|Chromosome=12
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=COL2A1
|position=47974234
|Gene_s=COL2A1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=120140
|rsnum=121912889
|variant=0039
}}{{ClinVar
|rsid=121912889
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=48368017
|CHROM=12
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=COL2A1:1280
|GENE_NAME=COL2A1
|GENE_ID=1280
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000012.11:g.48368017T>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=120140.0039
|CLNSIG=5
|CLNCUI=C1835437; C0796173
|CLNDBN=Platyspondylic lethal skeletal dysplasia Torrance type; Spondyloperipheral dysplasia
|Disease=Platyspondylic lethal skeletal dysplasia Torrance type; Spondyloperipheral dysplasia
|CLNACC=RCV000018931.26; RCV000022482.26
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet; MedGen:OMIM
|CLNDSDBID=C1835437:151210:85166; C0796173:271700
}}